| First Author | Reed V | Year | 1994 |
| Journal | Genet Res | Volume | 63 |
| Issue | 2 | Pages | 155 (Abstr) |
| Mgi Jnum | J:18597 | Mgi Id | MGI:66860 |
| Citation | Reed V, et al. (1994) Molecular analysis of mottled mutations in the mouse. Genet Res 63(2):155 (Abstr) |
| abstractText | Full text of Abstract: Molecular analysis of mottled mutations in the mouse. V. REED, A.M. GEORGE, P.H. GLENISTER AND Y. BOYD IN COLLABORATION WITH J. CHELLY, A.P. MONACO, Z. TUMER, N. HORN, B.M. CATTANACH AND M.F. LYON. Genetics Division, MRC Radiobiology Unit, Chilton, Didcot, Oxon, OX11 ORD Mottled (Mo) is an X-linked mutation caused by a defect in copper metabolism which shares many features with Menkes' disease (MNK) in man. Both Mo and MNK map close to PGK1 in the same conserved segment of the X chromosome. Mottled mutations, of varying degrees, arise frequently both spontaneously and after mutagenic treatment. These mutations provide tools for studying the structure and function of the gene involved. The recent cloning of human MNK cDNAs has provided probes for most of the coding region of the gene (Chelly et al, (1993) Nature genetics 3, 14-19). Using these human probes we have positioned the murine homologue of MNK (Mnk) immediately proximal to Pgk-1 using an interspecific backcross; this is consistent with its position on the human X chronlosome. We have constructed a 300 kb long-range restriction map around Mnk and have also analysed female Mo/+ mutants for the presence of large deletions by PFGE. Southern blot analysis was also used to look for any rearrangements at Mnk in both female and male mice carrying ten independent mottled mutations. So far we have not detected any abnormalities using conventional or pulsed field gel electrophoresis. Therefore, if Mnk is Mo, we can conclude that none of the mutations examined is associated with deletions. In addition we have detected an autosomal locus with one of the cDNAs and mapped it to chromosome 18 by linkage to D18Mit24 using the European Interspecific Backcross. (DNAs kindly provided by Maria Breen and colleagues at the HGMP Resource Centre.) |
